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CACP syndrome: identification of five novel mutations and of the first case of UPD in the largest European cohort.
Ciullini Mannurita, Sara; Vignoli, Marina; Bianchi, Lucia; Kondi, Anuela; Gerloni, Valeria; Breda, Luciana; Ten Cate, Rebecca; Alessio, Maria; Ravelli, Angelo; Falcini, Fernanda; Gambineri, Eleonora.
Afiliação
  • Ciullini Mannurita S; Department of 'NEUROFARBA', Section of Child's Health, University of Florence and Anna Meyer Children's Hospital, Florence, Italy.
  • Vignoli M; Department of 'NEUROFARBA', Section of Child's Health, University of Florence and Anna Meyer Children's Hospital, Florence, Italy.
  • Bianchi L; Unit of Hematology, Azienda Ospedaliero-Universitaria Careggi, Florence, Italy.
  • Kondi A; Pediatrics, Centro Ospedaliero-Universitario 'Madre Teresa', Tirana, Albania.
  • Gerloni V; Department of Rheumatology, Hospital G. Pini, Milan, Italy.
  • Breda L; Department of Pediatrics, University of Chieti, Chieti, Italy.
  • Ten Cate R; Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands.
  • Alessio M; Department of Pediatrics, University Federico II of Naples, Naples, Italy.
  • Ravelli A; Istituto Giannina Gaslini and University of Genoa, Genoa, Italy.
  • Falcini F; Department of Internal Medicine, Section of Rheumatology, Transition Clinic, University of Florence, Florence, Italy.
  • Gambineri E; Department of 'NEUROFARBA', Section of Child's Health, University of Florence and Anna Meyer Children's Hospital, Florence, Italy.
Eur J Hum Genet ; 22(2): 197-201, 2014 Feb.
Article em En | MEDLINE | ID: mdl-23756439
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Artropatia Neurogênica / Proteoglicanas / Sinovite / Deformidades Congênitas da Mão / Coxa Vara Tipo de estudo: Diagnostic_studies / Observational_studies / Risk_factors_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Newborn País/Região como assunto: Europa Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Itália
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Artropatia Neurogênica / Proteoglicanas / Sinovite / Deformidades Congênitas da Mão / Coxa Vara Tipo de estudo: Diagnostic_studies / Observational_studies / Risk_factors_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Newborn País/Região como assunto: Europa Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Itália